PanelApp
  1. Genes and Genomic Entities
  2. AKT1

AKT1

AKT serine/threonine kinase 1
OMIM: 164730, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red AKT1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.151

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cowden syndrome 6, MIM#615109

Green AKT1 in Mendeliome


Version 1.3512

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cowden syndrome 6, MIM#615109
  • Proteus syndrome, MIM#176920
Tags
  • somatic

Green AKT1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  3 reviews Other
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Proteus syndrome, somatic, MIM# 176920
    Tags
    • somatic

    Red AKT1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		3 reviews Unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cowden syndrome 6 615109
    • Proteus syndrome, somatic 176920

    Red AKT1 in Vascular Malformations_Germline


    Level 2: Cardiovascular disorders
    Version 1.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  1 review Other
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Proteus syndrome, somatic 176920
    • Cowden syndrome 6 615109
    Tags
    • somatic

    Green AKT1 in Vascular Malformations_Somatic


    Level 2: Cardiovascular disorders
    Version 1.16

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  1 review Other
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Cowden syndrome 6 615109
    • Proteus syndrome, somatic 176920
    Tags
    • somatic

    Green AKT1 in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.14

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS GMS
    Phenotypes
    • Proteus syndrome, somatic 176920
    Tags
    • somatic

    Green AKT1 in Fetal anomalies


    Version 1.465

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Cowden syndrome 6, MIM#615109
    • Proteus syndrome, somatic, MIM# 176920